ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2954-29C>T

gnomAD frequency: 0.00039  dbSNP: rs368911467
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000835998 SCV000977823 likely benign not provided 2018-06-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268327 SCV002551985 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000835998 SCV005205910 likely benign not provided criteria provided, single submitter not provided

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